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Disease Ontology Browser
Martsolf syndrome (DOID:0111586)
Alliance: disease page
Synonyms: cataract-intellectual disability-hypogonadism syndrome
Alt IDs: OMIM:212720, MESH:C536028, ORDO:1387, UMLS_CUI:C0796037
Definition: A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/26/2020
MGI 6.15
The Jackson Laboratory